Patients from minority communities are less likely to receive a recommendation for genetic evaluation or undergo genetic testing for Lynch syndrome, according to research published in Clinical Gastroenterology and Hepatology.
Sonia S. Kupfer, MD, of the University of Chicago, and colleagues wrote that this was despite no significant differences in colorectal tumor analysis between races or ethnicities.
“Diagnosis of Lynch syndrome is important for identification of affected family members and also for implementation of surveillance programs and prophylactic treatments,” they wrote. “While the true prevalence of Lynch syndrome in minority populations is not known, the paucity of identified families is likely due to under-diagnosis. Implementation of universal tumor testing has the potential to increase Lynch syndrome diagnosis by removing traditional barriers experienced by minority populations, though this has not been studied.”
Kupfer and colleagues conducted a retrospective analysis of colorectal tumors collected from 767 patients at four academic centers between 2012 and 2016. They determined rates of tumor testing, recommendations for genetic evaluation, rates of attending a genetic evaluation and performance of germline testing overall and by race/ethnicity.
While 92% of all CRC tumors were analyzed for mismatch repair deficiency, Kupfer and colleagues found that minority patients were significantly less likely to be referred for genetic evaluation (21.2% for non-Hispanic white patients vs. 16.9% for African-American patients and 10.9% for Hispanic patients; P < .02). Minority patients also had lower rates of genetic testing (10.7% for non-Hispanic white patients vs. 6% for African-American patients and 3.1% for Hispanic patients; P < .01).
Investigators wrote that these differences highlight how crucial it is for providers to recommend patients for genetic CRC testing.
“Racial and ethnic disparities become apparent in referral to genetics and genetic testing,” they wrote. “Follow up of abnormal tumor tests requires provider action and patient uptake that are potentially modifiable factors and could be targeted with directed interventions. Such interventions could increase identification of Lynch syndrome and achieve truly universal screening among all CRC patients.” – by Alex Young
Disclosures: The authors report no relevant financial disclosures.